Canonical Allele Identifier: CA634455507
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1329289976
gnomAD v2: 20-10654379-G-C
gnomAD v3: 20-10673731-G-C
gnomAD v4: 20-10673731-G-C
MyVariant Identifiers: chr20:g.10654379G>C (hg19) chr20:g.10673731G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673731G>C , CM000682.2:g.10673731G>C GRCh38
NC_000020.10:g.10654379G>C , CM000682.1:g.10654379G>C GRCh37
NC_000020.9:g.10602379G>C NCBI36
NG_007496.1:g.5316C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-201C>G MANE Select ENSP00000254958.4:n.-201C>G
ENST00000254958.9:c.-201C>G ENSP00000254958.4:n.-201C>G
NM_000214.2:c.-201C>G NP_000205.1:n.-201C>G
NM_000214.3:c.-201C>G MANE Select NP_000205.1:n.-201C>G
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